Scientists launch major investigation into mysterious metabolic diseases

NCT ID NCT06092346

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Nov 01, 2025 · Last updated May 20, 2026 · Updated 28 times

Summary

This study aims to learn more about rare disorders that affect how the body processes certain chemicals called purines and pyrimidines. These conditions can cause problems in the brain, blood, kidneys, and immune system, ranging from no symptoms to severe illness. Researchers will compare test results from affected individuals, their family members, and healthy volunteers to find better ways to diagnose and treat these disorders. Up to 999 people aged 1 month and older can join.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

Contact Phone: •••-•••-•••• Email: •••••@•••••

Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

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ADA2, OMIM *607575,SNEDDON SYNDROME; VAIHS ADA2, OMIM *607575,SNEDDON SYNDROME; VAIHS ADSL, OMIM *608222, ADENYLOSUCCINATE LYASE DEFICIENCY AICDA, OMIM *605257, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2; HIGM2 AICDA, OMIM *605257, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2; HIGM2 AK1, OMIM *103000, ADENYLATE KINASE DEFICIENCY AK1, OMIM *103000, ADENYLATE KINASE DEFICIENCY AMPD1, OMIM *102770, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY AMPD2, OMIM *102771, SPASTIC PARAPLEGIA 63; PONTOCEREBELLAR HYPOPLASIA AMPD3, OMIM*102772, AMP DEAMINASE DEFICIENCY APRT, OMIM *102600, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY CAD, *1140120, DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY DHODH, OMIM *126064, MILLER SYNDROME (POSTAXIAL ACROFACIAL DYSOSTOSIS) DPYD, OMIM *274270, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPYS, OMIM *613326, DIHYDROPYRIMIDINASE DEFICIENCY HPRT1, OMIM *308000 LESCH-NYHAN DISEASE IMPDH1, OMIM *146690, RETINITIS PIGMENTOSA TYPE 10, LEBER CONGENITAL AMAURIOSIS TYPE 11 ITPA, OMIM *147520, INOSINE TRIPHOSPHATASE DEFICIENCY; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 ITPA, OMIM *147520, INOSINE TRIPHOSPHATASE DEFICIENCY; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 METABOLIC DISEASE NT5C3A<TAB>, OMIM *606224, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY NT5C3A<TAB>, OMIM *606224, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY PNP, OMIM *164050, NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PRPS1 DEF, OMIM *311850, ARTS SYNDROME; CHARCOT-MARIE-TOOTH DISEASE PRPS1 SA, OMIM *311850 GOUT, PRPS-RELATED PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PURINE-PYRIMIDINE METABOLISM SLC22A12, OMIM *607096 HYPOURICEMIA SLC2A9, OMIM *606142 HYPOURICEMIA TPMT, OMIM *187680, THOIPURINES, POOR METABOLISM OF UMPS, OMIM *613891, OROTIC ACIDURIA UNG, OMIM *191525, HYPER-IGM SYNDROME 5 UPB1, OMIM *606673, BETA-UREIDOPROPIONASE DEFICIENCY UPB1, OMIM *606673, BETA-UREIDOPROPIONASE DEFICIENCY XDH, OMIM *607633, XANTHINURIA TYPE 1 XDH, OMIM *607633, XANTHINURIA TYPE 1